6 Result(s)
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Article
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease
Coronary artery disease (CAD) exists on a spectrum of disease represented by a combination of risk factors and pathogenic processes. An in silico score for CAD built using machine learning and clinical data in...
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Article
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications
Studies have shown that drug targets with human genetic support are more likely to succeed in clinical trials. Hence, a tool integrating genetic evidence to prioritize drug target genes is beneficial for drug ...
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Article
Open AccessExploiting the GTEx resources to decipher the mechanisms at GWAS loci
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic conseq...
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Article
Open AccessHOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases
Horizontal pleiotropy, where one variant has independent effects on multiple traits, is important for our understanding of the genetic architecture of human phenotypes. We develop a method to quantify horizont...
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Article
Reply to ‘Selective effects of heterozygous protein-truncating variants’
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Article
Estimating the selective effects of heterozygous protein-truncating variants from human exome data
Shamil Sunyaev, David Beier and colleagues report an analysis of the fitness effects of heterozygous protein-truncating variants from the Exome Aggregation Consortium. They find that high heterozygous selectio...
